rs121908893

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121908893(C;T)

Make rs121908893(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132385435

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs121908893
dbSNP (classic)	rs121908893
ClinGen	rs121908893
ebi	rs121908893
HLI	rs121908893
Exac	rs121908893
Gnomad	rs121908893
Varsome	rs121908893
LitVar	rs121908893
Map	rs121908893
PheGenI	rs121908893
Biobank	rs121908893
1000 genomes	rs121908893
hgdp	rs121908893
ensembl	rs121908893
geneview	rs121908893
scholar	rs121908893
google	rs121908893
pharmgkb	rs121908893
gwascentral	rs121908893
openSNP	rs121908893
23andMe	rs121908893
SNPshot	rs121908893
SNPdbe	rs121908893
MSV3d	rs121908893
GWAS Ctlg	rs121908893

GMAF

0.0009183

Max Magnitude

0

OMIM	603377
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121908893(A;A) rs121908893(T;T)
Alt	rs121908893(A;A) rs121908893(T;T)
Reference	Rs121908893(C;C)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131721127C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000006795.7, RCV000490002.1,